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Page 1
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.
Redin C, Brand H, Collins RL, Kammin T, Mitchell E, Hodge JC, Hanscom C, Pillalamarri V, Seabra CM, Abbott MA, Abdul-Rahman OA, Aberg E, Adley R, Alcaraz-Estrada SL, Alkuraya FS, An Y, Anderson MA, Antolik C, Anyane-Yeboa K, Atkin JF, Bartell T, Bernstein JA, Beyer E, Blumenthal I, Bongers EM, Brilstra EH, Brown CW, Brüggenwirth HT, Callewaert B, Chiang C, Corning K, Cox H, Cuppen E, Currall BB, Cushing T, David D, Deardorff MA, Dheedene A, D'Hooghe M, de Vries BB, Earl DL, Ferguson HL, Fisher H, FitzPatrick DR, Gerrol P, Giachino D, Glessner JT, Gliem T, Grady M, Graham BH, Griffis C, Gripp KW, Gropman AL, Hanson-Kahn A, Harris DJ, Hayden MA, Hill R, Hochstenbach R, Hoffman JD, Hopkin RJ, Hubshman MW, Innes AM, Irons M, Irving M, Jacobsen JC, Janssens S, Jewett T, Johnson JP, Jongmans MC, Kahler SG, Koolen DA, Korzelius J, Kroisel PM, Lacassie Y, Lawless W, Lemyre E, Leppig K, Levin AV, Li H, Li H, Liao EC, Lim C, Lose EJ, Lucente D, Macera MJ, Manavalan P, Mandrile G, Marcelis CL, Margolin L, Mason T, Masser-Frye D, McClellan MW, Mendoza CJ, Menten B, Middelkamp S, Mikami LR, Moe E, Mohammed S, Mononen T, Mortenson ME, Moya G, Nieuwint AW, Ordulu Z, Parkash S, Pauker SP, Pereira… See abstract for full author list ➔ Redin C, et al. Among authors: poddighe pj. Nat Genet. 2017 Jan;49(1):36-45. doi: 10.1038/ng.3720. Epub 2016 Nov 14. Nat Genet. 2017. PMID: 27841880 Free PMC article.
Clinical and molecular delineation of the 17q21.31 microdeletion syndrome.
Koolen DA, Sharp AJ, Hurst JA, Firth HV, Knight SJ, Goldenberg A, Saugier-Veber P, Pfundt R, Vissers LE, Destrée A, Grisart B, Rooms L, Van der Aa N, Field M, Hackett A, Bell K, Nowaczyk MJ, Mancini GM, Poddighe PJ, Schwartz CE, Rossi E, De Gregori M, Antonacci-Fulton LL, McLellan MD 2nd, Garrett JM, Wiechert MA, Miner TL, Crosby S, Ciccone R, Willatt L, Rauch A, Zenker M, Aradhya S, Manning MA, Strom TM, Wagenstaller J, Krepischi-Santos AC, Vianna-Morgante AM, Rosenberg C, Price SM, Stewart H, Shaw-Smith C, Brunner HG, Wilkie AO, Veltman JA, Zuffardi O, Eichler EE, de Vries BB. Koolen DA, et al. Among authors: poddighe pj. J Med Genet. 2008 Nov;45(11):710-20. doi: 10.1136/jmg.2008.058701. Epub 2008 Jul 15. J Med Genet. 2008. PMID: 18628315 Free PMC article.
Unbalanced der(5)t(5;20) translocation associated with megalencephaly, perisylvian polymicrogyria, polydactyly and hydrocephalus.
Verkerk AJ, Schot R, van Waterschoot L, Douben H, Poddighe PJ, Lequin MH, de Vries LS, Terhal P, Hahnemann JM, de Coo IF, de Wit MC, Wafelman LS, Garavelli L, Dobyns WB, Van der Spek PJ, de Klein A, Mancini GM. Verkerk AJ, et al. Among authors: poddighe pj. Am J Med Genet A. 2010 Jun;152A(6):1488-97. doi: 10.1002/ajmg.a.33408. Am J Med Genet A. 2010. PMID: 20503325 Free PMC article.
Complex craniosynostosis is associated with the 2p15p16.1 microdeletion syndrome.
Florisson JM, Mathijssen IM, Dumee B, Hoogeboom JA, Poddighe PJ, Oostra BA, Frijns JP, Koster L, de Klein A, Eussen B, de Vries BB, Swagemakers S, van der Spek PJ, Verkerk AJ. Florisson JM, et al. Among authors: poddighe pj. Am J Med Genet A. 2013 Feb;161A(2):244-53. doi: 10.1002/ajmg.a.35632. Epub 2013 Jan 9. Am J Med Genet A. 2013. PMID: 23303641
Structural and numerical changes of chromosome X in patients with esophageal atresia.
Brosens E, de Jong EM, Barakat TS, Eussen BH, D'haene B, De Baere E, Verdin H, Poddighe PJ, Galjaard RJ, Gribnau J, Brooks AS, Tibboel D, de Klein A. Brosens E, et al. Among authors: poddighe pj. Eur J Hum Genet. 2014 Sep;22(9):1077-84. doi: 10.1038/ejhg.2013.295. Epub 2014 Jan 8. Eur J Hum Genet. 2014. PMID: 24398799 Free PMC article.
61 results